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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:congenital mirror movement disorder
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Accession:DOID:0111153 term browser browse the term
Definition:A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. (DO)
Synonyms:exact_synonym: familial congenital controlateral synkinesia;   familial congenital mirror movements;   hereditary congenital controlateral synkinesia;   hereditary congenital mirror movements;   isolated congenital controlateral synkinesia;   isolated congenital mirror movements
 xref: MIM:PS157600;   ORDO:238722


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Mirror Movements 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: DEVELOPMENTAL SPLIT-BRAIN SYNDROME | ClinVar Annotator: match by term: Mirror movements 1 | ClinVar Annotator: match by term: Mirror movements 1 and/or agenesis of the corpus callosum OMIM
ClinVar		 PMID:19127048 PMID:20431009 PMID:21681106 PMID:24808016 PMID:25741868 More... NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740 		JBrowse link
Mirror Movements 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by term: Mirror movements 2 ClinVar
OMIM		 PMID:21242494 PMID:22305526 PMID:24808016 PMID:25741868 PMID:25813273 More... NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035 		JBrowse link
Mirror Movements 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnal4 dynein, axonemal, light chain 4 ISO ClinVar Annotator: match by term: Mirror movements 3 OMIM
ClinVar		 PMID:25098561 NCBI chr 7:111,312,424...111,325,283
Ensembl chr 7:111,312,427...111,325,283
Ensembl chr20:111,312,427...111,325,283 		JBrowse link
Mirror Movements 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntn1 netrin 1 ISO ClinVar Annotator: match by term: Mirror movements 4 | ClinVar Annotator: match by term: NTN1-related condition ClinVar
OMIM		 PMID:28945198 NCBI chr10:52,899,933...53,098,591
Ensembl chr10:52,899,934...53,085,326 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    physical disorder 5194
      congenital mirror movement disorder 4
        Mirror Movements 1 1
        Mirror Movements 2 1
        Mirror Movements 3 1
        Mirror Movements 4 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            movement disease 2633
              congenital mirror movement disorder 4
                Mirror Movements 1 1
                Mirror Movements 2 1
                Mirror Movements 3 1
                Mirror Movements 4 1
paths to the root